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Biomedical subjects

J Goldblatt

Publications and source records attributed to J Goldblatt.

At least 91 records · Page 5Linked to original sources
PubMed1991

The diagnosis of Duchenne and Becker muscular dystrophies: two years' experience in a comprehensive carrier screening and prenatal diagnostic laboratory.

This article describes the diagnostic algorithm being used for the management of the 148 families affected by Duchenne or Becker muscular dystrophy who are known to the Molecular Neurogenetics Laboratory in the Department of Neuropathology, Royal Perth Hospital. In 60 families from whom DNA has been obtained, 41 mutations (39 deletions and two duplications) of the Duchenne muscular dystrophy gene (DMD) have been identified by means of complementary DNA (cDNA) probes. DNA-based screening has clarified the carrier status of 45 at-risk women, and 13 pregnancies have been monitored. In addition, cDNA screening of all relevant patients with autosomal recessive muscular dystrophy, spinal muscular atrophy or limb-girdle muscular dystrophy facilitated the correct diagnosis of Becker muscular dystrophy in three patients.

Algorithms↗
PubMed1991

Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome.

Four members in three generations of a family had Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome with variable involvement of teeth, hair, nails and palate, characteristic facies and mild heat tolerance problems. In addition, the proband had a high sweat sodium, hypogenitalism, hypothelia and marked cicatricial scalp atrophy and scarring. Inheritance of the condition was consistent with an autosomal dominant mode and the manifestations are described to delineate further this rare phenotype.

Adult↗
PubMed1990

Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe.

A 31-year-old man previously investigated for a neuromuscular disorder was diagnosed as having either limb-girdle dystrophy, spinal muscular atrophy, or Becker muscular dystrophy. Extensive clinical and special neurological investigations failed to clarify this differential diagnosis. However, recent DNA studies have shown a deletion of the dystrophin gene, thereby providing an unequivocal diagnosis of Becker muscular dystrophy. The application of molecular genetic techniques in the diagnosis of inherited neuromuscular disorders is discussed.

Adult↗
PubMed1990

Hereditary non-polyposis colorectal cancer in a Namaqualand kindred.

A family with hereditary non-polyposis colonic cancer affecting 16 males over three generations is described. Autosomal dominant inheritance with male predominance is demonstrated. The clinical features of this condition and methods for screening family members are discussed.

Adult↗
PubMed1990

Skeletal complications of type I Gaucher disease: the magnetic resonance features.

Abnormalities on magnetic resonance imaging (MRI) are reported in six individuals with various skeletal complications of type I Gaucher disease. The changes were a nonhomogeneous reduction in both T1 and T2 marrow signals with increased T2 signals during avascular episodes. MRI proved an excellent technique for the assessment of bone marrow changes in Type I Gaucher disease and for assessing avascular complications. It was not able to differentiate between pseudo-osteomyelitis and pyogenic osteomyelitis without clinical correlation. The problems studied included the extent of intramedullary Gaucher cell infiltration, avascular necrosis of femoral heads, assessment of bone pain from pseudo-osteomyelitis and the relationship of skeletal disease to splenectomy.

Adult↗
PubMed1990

Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity?

The osteopetroses are a heterogeneous group of disorders characterised by generalised bony sclerosis. The autosomal dominant form usually has a "benign" prognosis, in contrast to the "malignant" course of the autosomal recessive variety. In this paper we describe a kindred in which the phenotypic spectrum varied from an asymptomatic condition in adults to a severely affected infant, presenting with anaemia, hepatosplenomegaly, hydrocephalus and blindness. The findings in this family are reported and discussed to elucidate further the possible genetic heterogeneity in autosomal dominant osteopetrosis.

Adult↗
PubMed1989

Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity.

We report on a family in which individuals have clinical features of both Emery-Dreifuss syndrome (EMD) and X-linked muscular dystrophy with contractures (XLMDC). Molecular studies on this kindred showed linkage between the disorder and probe DXS 52 (St14) located at Xq28. The gene for conventional EMD has previously been mapped to this region and our molecular findings therefore suggest that EMD and XLMDC represent the phenotypic spectrum of the same mutated gene rather than heterogeneity, as sometimes postulated.

Chromosome Mapping↗
PubMed1989

X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype.

Hereditary spastic paraplegia (HSP) is rarely inherited in an X-linked recessive mode in pure and complicated forms. Recently, molecular linkage studies have suggested that these variant X-linked HSP conditions result from locus heterogeneity. In this paper we report on the clinical and linkage analysis of a kindred with complicated X-linked HSP. The finding in this family of a map location of the putative HSP gene in the same region as the documented for the pure HSP gene provides evidence that allelic mutations might also be responsible for the variable phenotype encountered in these X-linked disorders.

Adolescent↗
PubMed1989

Hirschsprung's disease and Ondine's curse: further evidence for a distinct syndrome.

Although Hirschsprung's disease is a relatively common congenital malformation, with an estimated incidence of about 1:5000, Primary Central Hypoventilation Syndrome (Ondine's curse) is exceedingly rare, with about 50 reported cases. We describe a patient with total colonic aganglionosis occurring together with failure of automatic control of respiration, specific facial dysmorphology and characteristic CT scan changes to substantiate further the syndromic nature of this association.

Facial Bones↗
PubMed1988

X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

Molecular linkage analysis was undertaken on a large Mauritian kindred with X-linked mixed deafness, stapes fixation, and perilymphatic gusher (X-LDSF). DNA probe pDP34 (DXYS1) was tightly linked to the disorder, with a lod score of 6.32 at zero recombination. This observation indicates that the gene for this form of deafness maps to the Xq13-q21.1 region and has important implications for carrier screening and antenatal diagnosis.

Chromosome Mapping↗
PubMed1988

Total hip arthroplasty in Gaucher's disease. Long-term prognosis.

Avascular necrosis of the femoral head is a cause of morbidity in patients with Gaucher's disease. Total hip arthroplasty (THA) is recommended, but there is controversy about the long-term value of this procedure. In eight patients treated with 15 THAs, 11 (73%) have remained fully mobile and asymptomatic up to 14 years following surgery. These long-term follow-up observations are evidence in favor of THA for treatment of hip joint problems associated with Gaucher's disease.

Adult↗
PubMed1987

Duchenne muscular dystrophy in South Africa. Prevention by molecular techniques.

The availability of DNA markers closely linked to the Duchenne muscular dystrophy (DMD) gene locus has facilitated carrier detection and prenatal diagnosis of this condition. More than 50 affected South African kindreds are being studied using DNA probes within and flanking the DMD region of the X chromosome in order to ascertain the nature of the molecular defects in affected males and to investigate the feasibility of genetic management by means of these techniques. The results of this study and the implications of this new molecular technology for DMD patients in South Africa are reviewed and discussed.

Child↗
PubMed1987

Genetic disease in South Africa. A molecular approach.

The Department of Human Genetics, University of Cape Town, has accumulated data on more than 11,000 individuals with inherited disorders seen over the last 15 years. Clinical and radiographic data on these persons and their families have been documented and where appropriate they have been investigated in our genetic laboratories. In accordance with current trends, a molecular genetic laboratory has been developed. The approach to South African genetic disease using recombinant DNA techniques is described.

DNA↗
PubMed1987

Lethal cardiac conduction defects in Emery-Dreifuss muscular dystrophy.

Significant cardiac conduction defects were a prominent feature of a kindred suffering from Emery-Dreifuss muscular dystrophy and 3 affected males were treated by insertion of permanent cardiac pacemakers. Because of the rarity of this disorder and for the sake of further phenotype delineation, results of clinical, genetic and biochemical investigations of the affected males and obligate carrier females are presented and discussed.

Adult↗
PubMed1987

Childhood deafness in the Indian population of Natal.

A study of 212 Indian children at the V.A. Naik School for Deaf was undertaken to determine the aetiology of their deafness. Undifferentiated autosomal recessive deafness was more frequent among Muslim patients--a population with a high incidence of consanguineous marriages--than among Tamils and Hindus. Although fewer than expected genetic syndromes were identified, Waardenburg's syndrome was present in 2% of the pupils. A firm diagnosis of acquired deafness was obtained in 32 children (15%).

Adolescent↗